Mutagenetix > Incidental Mutation

Incidental Mutation 'R7275:Inpp5e'

565493

Institutional Source

Beutler Lab

Gene Symbol

Inpp5e

Ensembl Gene

ENSMUSG00000026925

Gene Name

inositol polyphosphate-5-phosphatase E

Synonyms

1200002L24Rik, 72kDa

MMRRC Submission

045358-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26286261-26299215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26298104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 166 (S166P)

Ref Sequence

ENSEMBL: ENSMUSP00000119485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091252] [ENSMUST00000114082] [ENSMUST00000114090] [ENSMUST00000145701]

AlphaFold

Q9JII1

Predicted Effect

probably benign
Transcript: ENSMUST00000091252

SMART Domains

Protein: ENSMUSP00000088796
Gene: ENSMUSG00000026924

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
low complexity region	204	221	N/A	INTRINSIC
low complexity region	243	254	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
low complexity region	537	561	N/A	INTRINSIC
low complexity region	608	621	N/A	INTRINSIC
low complexity region	760	777	N/A	INTRINSIC
low complexity region	1096	1105	N/A	INTRINSIC
low complexity region	1134	1150	N/A	INTRINSIC
low complexity region	1185	1195	N/A	INTRINSIC
low complexity region	1370	1392	N/A	INTRINSIC
Pfam:Sec16	1463	1565	3.1e-24	PFAM
low complexity region	1600	1614	N/A	INTRINSIC
Pfam:Sec16_C	1635	1898	2.3e-39	PFAM
low complexity region	2109	2124	N/A	INTRINSIC
low complexity region	2165	2177	N/A	INTRINSIC
low complexity region	2187	2197	N/A	INTRINSIC
low complexity region	2227	2242	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114082

SMART Domains

Protein: ENSMUSP00000109716
Gene: ENSMUSG00000026924

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
low complexity region	204	221	N/A	INTRINSIC
low complexity region	243	254	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
low complexity region	537	561	N/A	INTRINSIC
low complexity region	608	621	N/A	INTRINSIC
low complexity region	760	777	N/A	INTRINSIC
low complexity region	1096	1105	N/A	INTRINSIC
low complexity region	1134	1150	N/A	INTRINSIC
low complexity region	1185	1195	N/A	INTRINSIC
low complexity region	1370	1392	N/A	INTRINSIC
Pfam:Sec16	1464	1564	2.6e-10	PFAM
low complexity region	1600	1614	N/A	INTRINSIC
Pfam:Sec16_C	1636	1887	6.8e-45	PFAM
low complexity region	2109	2124	N/A	INTRINSIC
low complexity region	2165	2177	N/A	INTRINSIC
low complexity region	2187	2197	N/A	INTRINSIC
low complexity region	2227	2242	N/A	INTRINSIC
low complexity region	2310	2320	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114090
AA Change: S166P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925
AA Change: S166P

Domain	Start	End	E-Value	Type
low complexity region	277	294	N/A	INTRINSIC
IPPc	300	602	1.27e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145701
AA Change: S166P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925
AA Change: S166P

Domain	Start	End	E-Value	Type
low complexity region	277	294	N/A	INTRINSIC
IPPc	300	602	1.27e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156442

SMART Domains

Protein: ENSMUSP00000122255
Gene: ENSMUSG00000026924

Domain	Start	End	E-Value	Type
Pfam:Sec16	14	114	7.7e-11	PFAM
low complexity region	150	164	N/A	INTRINSIC
Pfam:Sec16_C	186	438	1.6e-45	PFAM
low complexity region	659	674	N/A	INTRINSIC
low complexity region	715	727	N/A	INTRINSIC
low complexity region	737	747	N/A	INTRINSIC
low complexity region	777	792	N/A	INTRINSIC

Meta Mutation Damage Score

0.0755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	A	12: 72,956,795 (GRCm39)	T132S	possibly damaging	Het
4933412E24Rik	A	G	15: 59,887,738 (GRCm39)	V234A	probably benign	Het
Abtb3	T	A	10: 85,490,346 (GRCm39)	L1004Q	probably damaging	Het
Acsm5	A	G	7: 119,136,511 (GRCm39)	T361A	possibly damaging	Het
Agxt2	G	A	15: 10,358,753 (GRCm39)	R24H	probably benign	Het
Asb16	G	T	11: 102,159,935 (GRCm39)	W96L	probably damaging	Het
Bche	T	A	3: 73,607,969 (GRCm39)	T486S	probably benign	Het
Bpnt2	C	A	4: 4,792,962 (GRCm39)	G48W	probably damaging	Het
Cast	T	C	13: 74,875,453 (GRCm39)	T382A	probably benign	Het
Cdcp1	T	A	9: 123,014,119 (GRCm39)	K218N	possibly damaging	Het
Ceacam18	G	A	7: 43,291,308 (GRCm39)	G250D	probably damaging	Het
Ciao3	T	A	17: 25,994,108 (GRCm39)	V52E	possibly damaging	Het
Ctnnd2	T	C	15: 30,905,855 (GRCm39)	I834T	possibly damaging	Het
Cyp11b2	C	A	15: 74,725,840 (GRCm39)	G136W	probably damaging	Het
Dis3	A	G	14: 99,324,925 (GRCm39)	V502A	probably damaging	Het
Dnai2	T	A	11: 114,648,054 (GRCm39)	M610K	unknown	Het
Drosha	G	A	15: 12,846,169 (GRCm39)	V435I	possibly damaging	Het
Dsc2	T	A	18: 20,184,236 (GRCm39)	R51*	probably null	Het
Ergic2	A	T	6: 148,096,757 (GRCm39)	C170S	probably damaging	Het
Exoc7	A	T	11: 116,195,688 (GRCm39)		probably null	Het
Fbxw25	G	T	9: 109,483,660 (GRCm39)	A184E		Het
Gm4846	T	A	1: 166,314,648 (GRCm39)	T332S	probably benign	Het
Greb1l	T	A	18: 10,544,561 (GRCm39)	M1385K	probably benign	Het
Grik1	T	C	16: 87,709,708 (GRCm39)	N871S	probably benign	Het
Il11ra1	T	C	4: 41,765,109 (GRCm39)	L145P	probably damaging	Het
Kdm4b	T	A	17: 56,703,333 (GRCm39)	L676H	probably damaging	Het
Lrp2	T	A	2: 69,289,875 (GRCm39)	K3655*	probably null	Het
Lrrc74a	A	G	12: 86,787,753 (GRCm39)	N128S	probably damaging	Het
Map3k14	T	C	11: 103,117,848 (GRCm39)	E648G	probably damaging	Het
Mbtps1	A	T	8: 120,269,489 (GRCm39)	D200E	probably benign	Het
Mttp	T	C	3: 137,829,546 (GRCm39)	D114G	probably benign	Het
Mup13	G	A	4: 61,182,752 (GRCm39)	T101M	probably benign	Het
Neb	T	A	2: 52,096,956 (GRCm39)	T4953S	probably benign	Het
Nfasc	A	C	1: 132,562,001 (GRCm39)	L147R	probably damaging	Het
Obox6	T	C	7: 15,567,805 (GRCm39)	E214G	probably benign	Het
Opn3	T	C	1: 175,493,039 (GRCm39)	N175S	probably damaging	Het
Or1j12	A	T	2: 36,342,851 (GRCm39)	M85L	probably benign	Het
Or8g22	T	A	9: 38,958,815 (GRCm39)		probably benign	Het
Or8k22	C	A	2: 86,163,136 (GRCm39)	C188F	possibly damaging	Het
Osbpl3	G	T	6: 50,323,410 (GRCm39)	D224E	probably benign	Het
Osr2	A	G	15: 35,301,032 (GRCm39)	D196G	probably damaging	Het
Pde8b	T	A	13: 95,179,442 (GRCm39)	N405Y	probably damaging	Het
Pirb	A	G	7: 3,719,177 (GRCm39)	S571P	probably benign	Het
Psmc3	T	A	2: 90,886,275 (GRCm39)	I163N	probably damaging	Het
Rapgef4	A	G	2: 72,038,445 (GRCm39)	D532G	probably damaging	Het
Retreg1	A	G	15: 25,971,684 (GRCm39)	D208G	probably benign	Het
Rgsl1	T	G	1: 153,679,876 (GRCm39)		probably null	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Slc30a2	T	A	4: 134,076,581 (GRCm39)		probably null	Het
Slc6a19	T	C	13: 73,834,197 (GRCm39)	D335G	probably benign	Het
Slco4c1	G	A	1: 96,799,497 (GRCm39)	T113M	probably benign	Het
Speer1c	T	C	5: 10,295,192 (GRCm39)	N71D		Het
Stxbp6	A	G	12: 44,948,786 (GRCm39)	F108L	probably benign	Het
Sulf1	T	A	1: 12,921,189 (GRCm39)		probably null	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Tbc1d19	T	A	5: 54,029,618 (GRCm39)	D326E	probably damaging	Het
Trappc14	T	C	5: 138,261,839 (GRCm39)	S86G	probably benign	Het
Trgv3	A	G	13: 19,427,188 (GRCm39)	T24A	probably benign	Het
Trpm3	T	A	19: 22,956,048 (GRCm39)	M1170K	possibly damaging	Het
Tubgcp6	G	A	15: 88,987,146 (GRCm39)	Q1276*	probably null	Het
Tyrp1	A	G	4: 80,755,821 (GRCm39)	K197E	possibly damaging	Het
Ube3d	T	C	9: 86,322,679 (GRCm39)	D165G	probably damaging	Het
Zfp212	A	G	6: 47,897,678 (GRCm39)	T7A	probably benign	Het
Zhx1	T	C	15: 57,917,758 (GRCm39)	T163A	probably benign	Het
Zp2	A	T	7: 119,734,576 (GRCm39)		probably null	Het

Other mutations in Inpp5e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Inpp5e	APN	2	26,298,533 (GRCm39)	missense	probably benign
IGL00943:Inpp5e	APN	2	26,290,163 (GRCm39)	splice site	probably benign
IGL01518:Inpp5e	APN	2	26,287,946 (GRCm39)	missense	probably damaging	1.00
R0212:Inpp5e	UTSW	2	26,298,352 (GRCm39)	splice site	probably null
R1818:Inpp5e	UTSW	2	26,287,886 (GRCm39)	missense	probably benign	0.00
R1876:Inpp5e	UTSW	2	26,298,169 (GRCm39)	missense	possibly damaging	0.91
R2508:Inpp5e	UTSW	2	26,289,355 (GRCm39)	missense	probably damaging	1.00
R4175:Inpp5e	UTSW	2	26,290,937 (GRCm39)	missense	probably damaging	0.99
R4647:Inpp5e	UTSW	2	26,297,926 (GRCm39)	missense	probably benign	0.01
R4668:Inpp5e	UTSW	2	26,291,006 (GRCm39)	missense	probably damaging	0.97
R4895:Inpp5e	UTSW	2	26,287,924 (GRCm39)	missense	probably damaging	1.00
R4908:Inpp5e	UTSW	2	26,290,918 (GRCm39)	missense	probably damaging	1.00
R5090:Inpp5e	UTSW	2	26,289,383 (GRCm39)	splice site	probably null
R5096:Inpp5e	UTSW	2	26,289,537 (GRCm39)	missense	probably damaging	1.00
R5830:Inpp5e	UTSW	2	26,290,427 (GRCm39)	missense	probably damaging	1.00
R6056:Inpp5e	UTSW	2	26,297,860 (GRCm39)	nonsense	probably null
R6899:Inpp5e	UTSW	2	26,290,060 (GRCm39)	missense	possibly damaging	0.77
R6939:Inpp5e	UTSW	2	26,297,774 (GRCm39)	splice site	probably null
R7003:Inpp5e	UTSW	2	26,287,877 (GRCm39)	missense	probably benign	0.01
R7164:Inpp5e	UTSW	2	26,297,995 (GRCm39)	missense	possibly damaging	0.66
R7285:Inpp5e	UTSW	2	26,287,870 (GRCm39)	missense	probably benign	0.36
R7468:Inpp5e	UTSW	2	26,298,161 (GRCm39)	missense	probably benign	0.00
R7873:Inpp5e	UTSW	2	26,297,957 (GRCm39)	nonsense	probably null
R8032:Inpp5e	UTSW	2	26,286,865 (GRCm39)	missense
R8146:Inpp5e	UTSW	2	26,289,274 (GRCm39)	missense	probably benign	0.00
R9227:Inpp5e	UTSW	2	26,288,616 (GRCm39)	missense	probably damaging	1.00
R9310:Inpp5e	UTSW	2	26,287,940 (GRCm39)	missense	probably benign
R9706:Inpp5e	UTSW	2	26,292,126 (GRCm39)	missense	probably benign	0.21
RF002:Inpp5e	UTSW	2	26,298,389 (GRCm39)	missense	possibly damaging	0.95
X0061:Inpp5e	UTSW	2	26,292,159 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTTGTAGTCCGTGTGCTC -3'
(R):5'- AAGTTGGAGCGAACCCTGTC -3'

Sequencing Primer
(F):5'- TGCTCGGGGTCAACCTTG -3'
(R):5'- TCAGGAGGATCTGACTGTCCAG -3'

Posted On

2019-06-26